Celebrating Inchstones: Appointments update

Tuesday, October 12, 2010

Appointments update

Asa had 2 appointments at Vandy today. It should have been 3 but his neurologist cancelled and wanted to reschedule next week! Sorry but 3 trips to Nashville in 3 weeks is a little too much!

Today Asa saw the developmental pediatrician first. They used the Bayley test to check his development. Asa performed at close to his best! There are a series of skills test to see if he can accomplish them. For example, can he put 9 square, red blocks into a coffee cup? Can he place 3 out of 5 pegs into the peg board? It is all pretty specific and only the tester can give tips or help him. Asa was so funny! She'd put the peg board in front of him, show him the skill and he'd do it. Then she'd take the peg board away and he'd sit with his hands on the table while she got out the next skill. He was a very patient and a willing participant!

So how'd he do?

Gross motor-7 month level

Fine motor-24 month level

Cognitive-19 month level

Receptive lang.-18 month level

Expressive lang.-11 month level

I think these levels are pretty accurate. His other evals are pretty close. I'm not sure his fine motor has ever been that high though.

So we went over his school IEP, his therapies, his feeding (or lack of), our goals, etc. It all seemed great! And we don't have to go back again! Unless something comes up, of course. As we were finishing up the appt. they handed me some paperwork (his growth charts, which are wonky!), a pamphlet about sign language (anyone know a local teacher?) and a reimbursement form.......WHAT, a reimbursement form! From a doctor?! Yep! The Dr. said they get state funding and decided to use the money to reimburse families that follow up in the clinic! I took my form downstairs and was handed $40!! Almost too easy! I'm sure there is a catch somewhere and I'll get a bill for $100! And you'd think I'd never had $40 before! I kept thinking of things I'd do with the free money! It ended up that I bought our lunch at the hospital and I need to refill my gas tank. Easy come, easy go!

Next was the geneticist appt. Our geneticist left and we were scheduled with a specialist I'd met before at our Vandy mito meetings. He is the group's medical advisor. I've chatted with him several times and he checked in on Asa once but now he will be Asa's specialist. His title is a Neuro-Geneticist in the Developmental Dept. Does anyone else notice that is encompasses 3 different specialties! His involvement in the Dev. Dept is only administrative but we already determined that we didn't need them again right now. He will however be taking over as Asa's neurologist! And he only wants to see him once or twice a year (unless needed, of course!). So I've narrowed our specialist down and spread them out! I feel like I've accomplished something today! He does want us to see cardio again (just as a precaution) so that takes up one space I guess!

Now for all my medical junkie fans.....

I asked about a new test available from GeneDx. It was in this months edition of the newsletter from the UMDF. It can test for 2 new genes in Complex IV that Asa hasn't been tested for. After chatting we decided it wouldn't do much good to test right now. Asa has shown to be heteroplasmic for a mutation that I'm homoplasmic for and I'm symptom free. Dr. K says this doesn't matter and this is the cause of Asa's mito. Dr. Tyler disagrees. He says it is meaningless. BUT, he says Asa's muscle biopsy is enough to list him in the highly probable mito category. In his book you need a known mutation to have mito. He was upfront and honest about this.

My explanation of his view is this: If he was a police officer called to a car accident scene where the front car had rear bumper damage and the back car had front bumper damage, he wouldn't assume (like we all would) that the rear car hit the front car. He would look for video footage of the accident to prove what happened. Now, this may be very overprotective and he is definitely covering his own behind (he stated that!) but that is his MO. He was very encouraging of us seeing Dr. K. I think I'll keep him......for now! I totally went into this appt. thinking I knew what he'd say and we'd differ and I'd move on. Now I'm not so sure!

He also said Vandy was being considered to participate in a vaccine study. It is a records only study where they'd look at the kids immunization records and then reactions to see if there is a correlation. They don't expect to find anything......HA, there we may disagree again!! He didn't have final details but thought Asa would qualify and only a few clinics were selected. I know I've seen a link about this somewhere but now I can't find it! Figures!!

Asa made the trip great. He is struggling with constipation again and had a couple of tough times but his doctors also helped me with a plan for that!! He has made the last few trips so well that we don't even have to stop! That means we can be there in 2 1/2 hours!! Yay!

I'm still working on the pics!! ;-)

3 comments:

Sarah said...: Thanks for updating. what a big day! whew! I'm tired just reading it all.

I hate the mito diagnosis. It's so tricky and not fair to the children who are being wrongly diagnosed. It sounds like your doctor wants to know if Asa's problems are primary mito or if mito is secondary caused from some other possible diagnosis. without genetic evidence, it's hard to diagnose primary mito.

Sounds like all in all some very productive appointments! Love your attitude btw, i think it's awesome.; October 12, 2010 at 10:59 PM
Anonymous said...: I think you are a saint the way you deal with all of this. Thanks for taking the time to update "us" ;o); October 15, 2010 at 4:58 PM
gg said...: Glad you liked Dr. Tyler - three-in-one is great!!!; October 15, 2010 at 10:57 PM

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Asa's story

Asa is the 4th and youngest in this family. We thought he'd come into this world and our lives would flow right along as it had the other 3 times we brought babies into this world.

We were wrong! After a normal pregnancy and delivery, Asa had to be sent to the NICU because he wasn't sucking, blood sugar dropping, floppy muscles, exaggerated startle reflex and jaundice.

He stayed 5 days were he learned to suck and eat enough to come home. He began nursing well but would scream in pain 30 minutes after each feeding. He had so much mucus and drooled so much. He had a terrible rash on his face. He wasn't making eye contact and was not hitting any milestones.

I kept taking him to the pediatrician but got nowhere until his 2 month checkup when he had only gained one pound since birth. That earned him an appt with a pediatric GI and a change to Neocate formula. Odd gasping spells and eye rolling got him into a pediatric neurologist before the GI appt. The neurologist (he was actually the head of the pediatric neurology dept) personally walked us over to the GI clinic and sat us in an exam room. That kinda makes you worry! That is when we really got the ball rolling. Asa was 3 months old.

At 4 months he was admitted to Vanderbilt Children's Hospital. He stayed 8 days and had a NG tube inserted so we could feed him directly into his stomach. He kept this for 2 months. Also during this time he had an EEG, CT scan, MRI, upper GI endoscopy with biopsy, flex sig, numerous blood tests, a genetics consult, and an ophthalmology consult and many other pokes and prods! So began our relationship with specialist!!

After 2 months on the NG tube, we removed it and tried to get Asa to eat enough to gain weight. He did OK for a little while but by 9 months old, he was fighting each feeding and not gaining weight despite being on Neocate formula at 30cal/oz. The decision was made to have a G-tube put in. The G-tube is a feeding tube that is inserted directly into Asa's belly. He can eat orally but won't so he gets feed into his belly.

Since he was going to have to be sedated for the surgery, it was agreed he should have a muscle biopsy at the same time. By 9 months he had finally began making eye contact. He smiled some but not very social. He was still very hypotonic (floppy) and didn't even have head control. Something was obviously going on with his muscles. All of his brain scans had been normal.

In Nov. 2008, when Asa was 13 months old, we found out the results of the muscle biopsy. Yes, it took 3+ months to get all of the results! He was diagnosed with Mitochondrial Myopathy. He is deficient in Complex IV for all of you medical junkies out there.

What this means is that his cells can't make enough energy to fuel his body....specifically for him, his muscles and GI system, that we know of. If his body has to burn energy to fight off infection, or a stress, then he looses energy in another system. Mito is a progressive disease with no treatment or cure. We try to keep him as healthy and happy as possible. We use the feeding tube to keep him feed so he doesn't have to struggle there. He takes numerous supplements and vitamins in the hope that they will keep him cells healthier. We check his eyes, hearing, heart, kidneys, liver, brain and lots of blood work yearly. Mito can affect any system so it is important to have baseline and watch for changes. He has a GI, neuro, geneticist, optometrist, ophthalmologist, cardiologist, developmental ped, regular ped and a mito specialist.

He gets OT, PT, speech/feeding and a home teacher weekly. He has some sensory issues with touch, sound, taste and texture. This plays into almost all areas of our lives! He is still very hypotonic but gained head control at just over a year (right after we started supplements!). He learned to sit when placed in a sitting position at 18 months. He still can't get into sitting alone. He learned to bottom scoot at just over 2. He does not crawl or walk.

He knows the signs for "moma", "daddy", "more" and "all done". He can show them when prompted but we are still waiting for him to initiate. He waves "bye-bye" and points all the time now. He loves to take a bath and water in general. He has a contagious laugh and can flash the most flirty grin ever!

We learned, with Asa, not take the small things for granted. Each smile, sound, word, bite or even trouble!! You just never know when they might not be so easy to come by or even if you'll have them at all!